Management of maple syrup urine disease in the peri-operative period.
نویسندگان
چکیده
Maple syrup urine disease (MSUD) has an incidence of 1:125,000 newborns in Ireland. Patients, when fasting, or in a catabolic state build up toxic metabolites leading to progressive neurological dysfunction. We describe the necessary peri-operative management of a patient with MSUD who developed symptomatic gallstones requiring a laparoscopic cholecystectomy.
منابع مشابه
Selective Screening of Phenylketonuria, Tyrosinemia and Maple Syrup Urine Disease in Southern Iran
Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast.The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup ...
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متن کاملMaple Syrup Urine Disease
Alternative Names MSUD Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency BCKD Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Intermediate Maple Syrup Urine Disease, Intermittent Maple Syrup Urine Disease, Thiamine-Responsive Maple Syrup Urine Disease, E3-Deficient, with Lactic Acidosis Maple Syrup Uri...
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Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five rec...
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عنوان ژورنال:
- Irish medical journal
دوره 106 9 شماره
صفحات -
تاریخ انتشار 2013